Recombinant Human Purine nucleoside phosphorylase (PNP)

Uniprot Id

P00491

Target Species

Human

Target Name

PNP

Target Full Name

Purine nucleoside phosphorylase

Target Function

Catalyzes the phosphorolytic breakdown of the N-glycosidic bond in the beta-(deoxy)ribonucleoside molecules, with the formation of the corresponding free purine bases and pentose-1-phosphate. Preferentially acts on 6-oxopurine nucleosides including inosine and guanosine.

Target Involvement

Purine nucleoside phosphorylase deficiency (PNPD)

Target Subcellular Location

Cytoplasm.

Target Protein Families

PNP/MTAP phosphorylase family

Target Tissue Specificity

Expressed in red blood cells; overexpressed in red blood cells (cytoplasm) of patients with hereditary non-spherocytic hemolytic anemia of unknown etiology.

Target Research Area

Metabolism

Target Synonyms

FLJ94043; FLJ97288; FLJ97312; Inosine phosphorylase; Inosine-guanosine phosphorylase; MGC117396; MGC125915; MGC125916; NP; Np1; Nucleoside phosphorylase; PNP; Pnp1; PNPH_HUMAN; PRO1837; PUNP; Purine nucleoside orthophosphate ribosyltransferase; Purine nucleoside phosphorylase 5a; Purine nucleoside phosphorylase

Target Background

This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2.